Varaico: Literature-Extracted Genetic Variants

Gene:EIF1AX
Variant:p.G8R
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EIF1AX

NM_001412.4:p.G8R

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc3.xlsx › All

An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.

Massimino M et al.

Biomolecules, 2025

39858540 (PubMed )
Supplement: biomolecules-15-00146-s001.zip › Table_S6.xlsx › SNV_INDELs_UM

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Scaini MC et al.

Npj Precision Oncology, 2024

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Genetics and RNA Regulation of Uveal Melanoma.

Barbagallo C et al.

Cancers, 2023

Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.

Affinito O et al.

Cancer Cell International, 2022

35996174 (PubMed )
Supplement: 12935_2022_2680_MOESM5_ESM.xlsx › Stage1

High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid.

Bae JS et al.

Endocrine Pathology, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab3

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.

Drabarek W et al.

Investigative Ophthalmology & Visual Science, 2019

31425584 (PubMed )
Supplement: iovs-60-08-34_s03.xlsx › Sheet1

EIF1AX and RAS Mutations Cooperate to Drive Thyroid Tumorigenesis through ATF4 and c-MYC.

Krishnamoorthy GP et al.

Cancer Discovery, 2019

Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.

Angell TE et al.

Frontiers in Endocrinology, 2019

EIF1AX and NRAS Mutations Co-occur and Cooperate in Low-Grade Serous Ovarian Carcinomas.

Etemadmoghadam D et al.

Cancer Research, 2017

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s005.xls › Sheet1

Genomic Landscape of poorly Differentiated and Anaplastic Thyroid Carcinoma.

Xu B et al.

Endocrine Pathology, 2016

Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules.

Karunamurthy A et al.

Endocrine-related Cancer, 2016

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P et al.

Oncotarget, 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

Establishment of novel cell lines recapitulating the genetic landscape of uveal melanoma and preclinical validation of mTOR as a therapeutic target.

Amirouchene-Angelozzi N et al.

Molecular Oncology, 2014

SF3B1 mutations are associated with alternative splicing in uveal melanoma.

Furney SJ et al.

Cancer Discovery, 2013

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.

Taylor Gonzalez DJ et al.

Ophthalmology Science, 0

40114711 (PubMed )
Supplement: mmc1.docx
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